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Wir verstehen die Welt nicht mehr: Deutschlands Entfremdung von seinen Freunden

Marschall, Christoph von

1, 2018

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Genetic basis of hypertrophic cardiomyopathy in children

Clinical research in cardiology, 2019-03, Vol.108 (3), p.282-289

2019

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It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

Journal of cardiovascular development and disease, 2022-01, Vol.9 (2), p.41

2022

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Pharmacological Provocation of Outflow-Tract Tachycardia in a Patient With Brugada Syndrome

Canadian journal of cardiology, 2016-12, Vol.32 (12), p.1577.e5-1577.e7

2016

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Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation

PloS one, 2014-08, Vol.9 (8), p.e103150

2014

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Drug Product Characterization of High Concentration Non-Aqueous Protein Powder Suspensions

Journal of pharmaceutical sciences, 2023-01, Vol.112 (1), p.61-75

2023

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Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease

World journal of pediatrics : WJP, 2016-11, Vol.12 (4), p.501-503

2016

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Powder suspensions in non-aqueous vehicles for delivery of therapeutic proteins

European journal of pharmaceutics and biopharmaceutics, 2021-04, Vol.161, p.37-49

2021

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Preparation of high concentration protein powder suspensions by milling of lyophilizates

European journal of pharmaceutics and biopharmaceutics, 2021-09, Vol.166, p.75-86

2021

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Herausforderung der Varianteninterpretation am Beispiel des Long-QT-Syndroms (LQTS)

Medizinische Genetik, 2019-06, Vol.31 (2), p.222-229

2019

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Charisma und Herrschaft: Führung und Verführung in der Politik

1. Aufl., 2011

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Topical ocular protein delivery based on protein powder suspensions in semifluorinated alkanes

European journal of pharmaceutics and biopharmaceutics, 2023-08, Vol.189, p.233-239

2023

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Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature

Molecular genetics and metabolism, 2022-08, Vol.136 (4), p.274-281

2022

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Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders

Cardiovascular diagnosis and therapy, 2019-10, Vol.9 (S2), p.S292-S298

2019

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Cellular properties of C-terminal KCNH2 long QT syndrome mutations: Description and divergence from clinical phenotypes

Heart rhythm, 2008-08, Vol.5 (8), p.1159-1167

2008

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Influence of oxygen on sulfate reduction and growth of sulfate-reducing bacteria

Archives of microbiology, 1993-02, Vol.159 (2), p.168-173

1993

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Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms

Journal of cardiovascular electrophysiology, 2020-06, Vol.31 (6), p.1527-1535

2020

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Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing

Europace (London, England), 2021-05, Vol.23 (5), p.775-780

2021

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Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224T>C and c.13781A>G, With the Clinical Presentation of Idiopathic Ventricular Fibrillation

Pediatric cardiology, 2014-12, Vol.35 (8), p.1437-1441

2014

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Genotype and Laboratory and Clinical Phenotypes of Protein S Deficiency

American journal of clinical pathology, 2012-02, Vol.137 (2), p.178-184

2012

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Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224TC and c.13781AG, With the Clinical Presentation of Idiopathic Ventricular Fibrillation

Pediatric cardiology, 2014-12, Vol.35 (8), p.1437

2014

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Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations

Laboratoriumsmedizin, 2018-04, Vol.42 (1), p.1-8

2018

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FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

Human mutation, 2009-02, Vol.30 (2), p.181-190

2009

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A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome

Cardiology in the young, 2012-06, Vol.22 (3), p.360-363

2012

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Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

European journal of medical genetics, 2013-12, Vol.56 (12), p.669-673

2013

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Wir verstehen die Welt nicht mehr: Deutschlands Entfremdung von seinen Freunden

Genetic basis of hypertrophic cardiomyopathy in children

It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

Pharmacological Provocation of Outflow-Tract Tachycardia in a Patient With Brugada Syndrome

Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation

Drug Product Characterization of High Concentration Non-Aqueous Protein Powder Suspensions

Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease

Powder suspensions in non-aqueous vehicles for delivery of therapeutic proteins

Preparation of high concentration protein powder suspensions by milling of lyophilizates

Herausforderung der Varianteninterpretation am Beispiel des Long-QT-Syndroms (LQTS)

Charisma und Herrschaft: Führung und Verführung in der Politik

Topical ocular protein delivery based on protein powder suspensions in semifluorinated alkanes

Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders

Cellular properties of C-terminal KCNH2 long QT syndrome mutations: Description and divergence from clinical phenotypes

Influence of oxygen on sulfate reduction and growth of sulfate-reducing bacteria

Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms

Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing

Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224T>C and c.13781A>G, With the Clinical Presentation of Idiopathic Ventricular Fibrillation

Genotype and Laboratory and Clinical Phenotypes of Protein S Deficiency

Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224TC and c.13781AG, With the Clinical Presentation of Idiopathic Ventricular Fibrillation

Multiple Integration and Data Annotation Study (MIDAS): improving next-generation sequencing data analysis by genotype-phenotype correlations

FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations

A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome

Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

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